Canonical Allele Identifier: CA260708404

Gene: SOS2

Linked Data

• ClinVar Variation Id: 2126246
• ClinVar RCV Id: RCV003044028
• dbSNP Id: rs939707624
• gnomAD v3: 14-50182504-G-C
• gnomAD v4: 14-50182504-G-C
• MyVariant Identifiers: chr14:g.50649222G>C (hg19) ; chr14:g.50182504G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50182504G>C , CM000676.2:g.50182504G>C	GRCh38
NC_000014.8:g.50649222G>C , CM000676.1:g.50649222G>C	GRCh37
NC_000014.7:g.49718972G>C	NCBI36
NG_051073.1:g.54190C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216373.10:c.817C>G MANE Select	ENSP00000216373.5:p.Pro273Ala
ENST00000216373.9:c.817C>G	ENSP00000216373.5:p.Pro273Ala
ENST00000543680.5:c.817C>G	ENSP00000445328.1:p.Pro273Ala
ENST00000556469.5:n.584C>G
NM_006939.2:c.817C>G	NP_008870.2:p.Pro273Ala
XM_005268021.1:c.637C>G	XP_005268078.1:p.Pro213Ala
XM_011537103.1:c.778C>G	XP_011535405.1:p.Pro260Ala
XM_011537104.1:c.817C>G	XP_011535406.1:p.Pro273Ala
XR_943842.1:n.954-1283G>C
XR_943843.1:n.954-1283G>C
NM_006939.3:c.817C>G	NP_008870.2:p.Pro273Ala
NM_006939.4:c.817C>G MANE Select	NP_008870.2:p.Pro273Ala